Previous GeneCards Identifiers for PPIB Gene

Summaries for PPIB Gene

Entrez Gene Summary for PPIB Gene

The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]

UniProtKB/Swiss-Prot

Osteogenesis imperfecta 9 (OI9) [MIM:259440]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder. {ECO:0000269 PubMed:19781681, ECO:0000269 PubMed:20089953}. Note=The disease is caused by mutations affecting the gene represented in this entry.

No data available for
Genatlas
for PPIB Gene

Publications for PPIB Gene

Human cyclophilin B: a second cyclophilin gene encodes a peptidyl-prolyl isomerase with a signal sequence.(PMID: 2000394)Price ER … Walsh CT(Proceedings of the National Academy of Sciences of the United States of America 1991)2342258